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Tlr4Lps-d
Spontaneous Allele Detail
Summary
Symbol: Tlr4Lps-d
Name: toll-like receptor 4; defective lipopolysaccharide response
MGI ID: MGI:1857718
Synonyms: lpsd, mutant TLR4, Tlr4-, Tlr4d, TLR4d, TLR4lps-def, TLR4-M, TLR4-Mu, TlrLps-d
Gene: Tlr4  Location: Chr4:66745788-66765338 bp, + strand  Genetic Position: Chr4, 34.66 cM
Alliance: Tlr4Lps-d page
Mutation
origin
Strain of Origin:  C3H/HeJ
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsThis allele corresponds to a mutation in the third exon of the gene. A C-to-A substitution at coding tide position 2135 (c.2135C>A) results in an amino acid substitution that replaces proline with histidine at position 712 (p.P712H). (J:51522, J:53519, J:57938)
Inheritance:    Codominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 1 assay results
In Structures Affected by this Mutation: 15 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 7 strains available      Cell Lines: 0 lines available
Carrying any Tlr4 Mutation:  91 strains or lines available
Notes
C3H/HeJ mice carry this allele. Various combinations of Lps-associated traits have been followed in crosses between C3H/HeJ and other C3H substrains, and the traits have in all cases segregated together (J:30692, J:5557, J:5593, J:5938). Some of the traits show dominance of the Tlr4lps-n allele; others, including Tlr4Lps-d, show codominance.

Genbank ID for this allele: AF095353

References
Original:  J:5721 Dumont F, et al., Electrokinetic properties of splenic lymphocytes from the low-lipopolysaccharide responder C3H/Hej mice. Folia Biol (Praha). 1976;12(3):145-50
All:  374 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory